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NM_000535.7(PMS2):c.659G>T (p.Ser220Ile) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jan 16, 2023
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV003117834.2

Allele description [Variation Report for NM_000535.7(PMS2):c.659G>T (p.Ser220Ile)]

NM_000535.7(PMS2):c.659G>T (p.Ser220Ile)

Gene:
PMS2:PMS1 homolog 2, mismatch repair system component [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
7p22.1
Genomic location:
Preferred name:
NM_000535.7(PMS2):c.659G>T (p.Ser220Ile)
HGVS:
  • NC_000007.14:g.5999154C>A
  • NG_008466.1:g.14953G>T
  • NM_000535.7:c.659G>TMANE SELECT
  • NM_001322003.2:c.254G>T
  • NM_001322004.2:c.254G>T
  • NM_001322005.2:c.254G>T
  • NM_001322006.2:c.659G>T
  • NM_001322007.2:c.341G>T
  • NM_001322008.2:c.341G>T
  • NM_001322009.2:c.254G>T
  • NM_001322010.2:c.254G>T
  • NM_001322011.2:c.-275G>T
  • NM_001322012.2:c.-275G>T
  • NM_001322013.2:c.133-1731G>T
  • NM_001322014.2:c.659G>T
  • NM_001322015.2:c.350G>T
  • NP_000526.2:p.Ser220Ile
  • NP_001308932.1:p.Ser85Ile
  • NP_001308933.1:p.Ser85Ile
  • NP_001308934.1:p.Ser85Ile
  • NP_001308935.1:p.Ser220Ile
  • NP_001308936.1:p.Ser114Ile
  • NP_001308937.1:p.Ser114Ile
  • NP_001308938.1:p.Ser85Ile
  • NP_001308939.1:p.Ser85Ile
  • NP_001308943.1:p.Ser220Ile
  • NP_001308944.1:p.Ser117Ile
  • LRG_161:g.14953G>T
  • NC_000007.13:g.6038785C>A
  • NC_000007.13:g.6038785C>A
  • NM_000535.6:c.659G>T
  • NR_136154.1:n.746G>T
Protein change:
S114I
Links:
dbSNP: rs769967916
NCBI 1000 Genomes Browser:
rs769967916
Molecular consequence:
  • NM_001322011.2:c.-275G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001322012.2:c.-275G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001322013.2:c.133-1731G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_000535.7:c.659G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001322003.2:c.254G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001322004.2:c.254G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001322005.2:c.254G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001322006.2:c.659G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001322007.2:c.341G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001322008.2:c.341G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001322009.2:c.254G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001322010.2:c.254G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001322014.2:c.659G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001322015.2:c.350G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NR_136154.1:n.746G>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003800806Women's Health and Genetics/Laboratory Corporation of America, LabCorp
criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)		Uncertain significance
(Jan 16, 2023) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV003800806.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024